Adrenal Disorders in Infant and Children

Question 1

what is the number one cause of “the crashing neonate”

Answer 1

sepsis

Question 2

What is the immediate precursor to mineralocorticoids, glucocorticoids, and androgens?

Answer 2

Pregnenolone (from cholesterol via desmolase)

Question 3

What are electrolyte imbalances of aldosterone deficiency?

Answer 3

hyperkalemia
hyponatremia
acidosis (H+ retention)

Question 4

What is the genes and cause of Congenital Adrenal Hyperplasia (CAH)?

Answer 4

Autosomal recessive on
Chromosome 6

collection of enzymes deficiencies:
Lack of steroid hormone = increased ACTH stimulation

Question 5

What is the most common subcategory of CAH?

Answer 5

21-hydroxylase deficiency (>90%)

Question 6

What are the 3 expression types of CAH?

Answer 6

1. Ambiguous Genitalia
2. Salt-losing Crisis
3. Partial loss: Precocious Puberty

Question 7

What is the salt-losing form of 21-OH deficiency in males and females?

Answer 7

males: express at 1-3 weeks of age
females: ambiguous genitalia at birth presents before salt losing crisis

Question 8

What is the lab Dx of 21-OH deficiency? (what is increased/decreased)

Answer 8

increased:

1. Androgens
2. Precursors (Pregnenolone, 17-OH Progesterone)
3. ACTH

decreased:

1. Cortisol
2. Aldosterone

Question 9

What are the two expressions of the Simple virilizing form of CAH?

Answer 9

1. Partial 21-OH deficiency:
   - initial low cortisol level
   - increased ACTH = enough cortisol for survival + increased androgens
2. Precocious puberty:
   - Accelerated bone age
   - girls with ambiguous genitalia
   - virilized boys

Question 10

What are females with 21-OH deficiency but with normal genitalia at risk for?

Answer 10

future fatal salt-losing crisis @ 1-3-5 weeks of age

Question 11

What is so bad about precocious puberty in young children?

Answer 11

1. subnormal glucocorticoid and mineralcorticoid fxn
2. advanced bone age
3. PREMATURE CESSATION OF LINEAR GROWTH

Question 12

What is the first and foremost treatment of 21-OH deficiency?

Answer 12

IV or IO Normal Saline

Question 13

What is Addison’s Disease? and what are some diseases categorized under it?

Answer 13

Primary Adrenal Insufficiency:

1. Autoimmune Polyendocrine syndrome
2. Waterhouse-Friderichsen syndrome (Neisseria)
3. Adrenal trauma
4. Tumor
5. Thrombosis

Question 14

What are some S/SX of Adrenocortical insufficiency?

Answer 14

1. Fatigue
2. Insomnia
3. Irritability
4. Cyclic Vomiting
5. Heat intolerance
6. Weight loss
7. Nausea
8. Inability to concentrate

Question 15

What should you do in the management of Adrenocortical Crisis?

Answer 15

give extra steroids (if CAH, get labs first)

Question 16

Who does pheochromocytoma appear in more often?

Answer 16

Males 2x > females

Question 17

What is the Classic symptom triad of pheochromocytoma?

Answer 17

1. Resting palpitations
2. Pounding headache
3. Tremor

Question 18

What is the Classic Exam triad of pheochromocytoma?

Answer 18

1. HTN
2. Inappropriate tachycardia
3. diaphoresis

Question 19

What is the lab dx of pheo?

Answer 19

24 urine for catecholamines,
Plasma metanephrines
LABILITY